MCID: AMY040
MIFTS: 26

Amyotrophic Lateral Sclerosis 10, with or Without Ftd

Categories: Genetic diseases, Mental diseases

Aliases & Classifications for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 10, with or Without Ftd:

Name: Amyotrophic Lateral Sclerosis 10, with or Without Ftd 54 13
Amyotrophic Lateral Sclerosis 10 71 69
Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia and with Tdp43 Inclusions 71
Frontotemporal Lobar Degeneration, Tardbp-Related 54
Als10 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
rapidly progressive
variable age at onset (range 25 to 78 years)


HPO:

32
amyotrophic lateral sclerosis 10, with or without ftd:
Onset and clinical course rapidly progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

UniProtKB/Swiss-Prot : 71 Amyotrophic lateral sclerosis 10: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

MalaCards based summary : Amyotrophic Lateral Sclerosis 10, with or Without Ftd, also known as amyotrophic lateral sclerosis 10, is related to amyotrophic lateral sclerosis type 10, and has symptoms including dysphagia, dysarthria and spasticity. An important gene associated with Amyotrophic Lateral Sclerosis 10, with or Without Ftd is TARDBP (TAR DNA Binding Protein). The drugs Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and skeletal muscle.

Description from OMIM: 612069

Related Diseases for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

Diseases related to Amyotrophic Lateral Sclerosis 10, with or Without Ftd via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis type 10 11.0

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

Symptoms via clinical synopsis from OMIM:

54

Abdomen- Gastroin testinal:
dysphagia

Neurologic- Behavioral Psychiatric Manifestations:
emotional lability
apathy
disinhibition
perseverative behavior

Respiratory:
respiratory insufficiency due to muscle weakness

Head And Neck- Mouth:
tongue hypotrophy

Neurologic- Central Nervous System:
dysarthria
spasticity
extensor plantar responses
pyramidal signs
upper and lower motor neuron disease
more
Muscle Soft Tissue:
muscle weakness
muscle atrophy
muscle biopsy shows chronic and active denervation

Head And Neck- Face:
bulbar symptoms


Clinical features from OMIM:

612069

Human phenotypes related to Amyotrophic Lateral Sclerosis 10, with or Without Ftd:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 dysphagia 32 HP:0002015
2 dysarthria 32 HP:0001260
3 spasticity 32 HP:0001257
4 emotional lability 32 HP:0000712
5 apathy 32 HP:0000741
6 respiratory insufficiency due to muscle weakness 32 HP:0002747
7 disinhibition 32 HP:0000734
8 babinski sign 32 HP:0003487
9 amyotrophic lateral sclerosis 32 HP:0007354
10 perseveration 32 HP:0030223
11 stereotypy 32 HP:0000733
12 skeletal muscle atrophy 32 HP:0003202

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

Drugs for Amyotrophic Lateral Sclerosis 10, with or Without Ftd (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
2
Memantine Approved, Investigational Phase 2 19982-08-2 4054
3
Riluzole Approved, Investigational Phase 2 1744-22-5 5070
4 Antiparkinson Agents Phase 2
5 Dopamine Agents Phase 2
6 Excitatory Amino Acid Antagonists Phase 2
7 Excitatory Amino Acids Phase 2
8 Neurotransmitter Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 F 18 T807 Tau PET Imaging in Familial Amyotrophic Lateral Sclerosis Recruiting NCT02414230 Phase 2 Drug: F 18 T807
2 Therapy in Amyotrophic Lateral Sclerosis With Memantine at 20 mg BID (TAME) Not yet recruiting NCT02118727 Phase 2 Memantine;Placebo (for Memantine)
3 Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Terminated NCT00159198 Phase 1
4 Understanding Clinical Phenotype and Collecting Biomarker Samples in C9ORF72 ALS Recruiting NCT02686268

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

Genetic Tests for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

Anatomical Context for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 10, with or Without Ftd:

39
Brain, Spinal Cord, Skeletal Muscle

Publications for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

Variations for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 10, with or Without Ftd:

71 (show all 25)
id Symbol AA change Variation ID SNP ID
1 TARDBP p.Asp169Gly VAR_045657 rs80356717
2 TARDBP p.Gly287Ser VAR_045658 rs80356719
3 TARDBP p.Gly290Ala VAR_045659 rs121908395
4 TARDBP p.Gly294Ala VAR_045660 rs80356721
5 TARDBP p.Gly298Ser VAR_045661 rs4884357
6 TARDBP p.Ala315Thr VAR_045662 rs80356726
7 TARDBP p.Gln331Lys VAR_045663 rs80356727
8 TARDBP p.Met337Val VAR_045664 rs80356730
9 TARDBP p.Gly348Cys VAR_045665 rs80356733
10 TARDBP p.Arg361Ser VAR_045666 rs80356735
11 TARDBP p.Ala382Thr VAR_045667 rs367543041
12 TARDBP p.Asn390Asp VAR_045668 rs80356741
13 TARDBP p.Asn390Ser VAR_045669 rs80356742
14 TARDBP p.Asn267Ser VAR_058611 rs80356718
15 TARDBP p.Gly294Val VAR_058612 rs80356721
16 TARDBP p.Gly295Arg VAR_058613 rs80356723
17 TARDBP p.Gly295Ser VAR_058614 rs80356723
18 TARDBP p.Ser332Asn VAR_058615 rs80356728
19 TARDBP p.Gly335Asp VAR_058616 rs80356729
20 TARDBP p.Ser379Cys VAR_058617 rs80356739
21 TARDBP p.Ser379Pro VAR_058618 rs80356738
22 TARDBP p.Ser393Leu VAR_058619 rs80356743
23 TARDBP p.Gln343Arg VAR_062767 rs80356731
24 TARDBP p.Gly357Arg VAR_067499
25 TARDBP p.Arg361Thr VAR_067500

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 10, with or Without Ftd:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 TARDBP NM_007375.3(TARDBP): c.1009A> G (p.Met337Val) single nucleotide variant Pathogenic rs80356730 GRCh37 Chromosome 1, 11082475: 11082475
2 TARDBP NM_007375.3(TARDBP): c.991C> A (p.Gln331Lys) single nucleotide variant Pathogenic rs80356727 GRCh37 Chromosome 1, 11082457: 11082457
3 TARDBP NM_007375.3(TARDBP): c.881G> C (p.Gly294Ala) single nucleotide variant Pathogenic rs80356721 GRCh37 Chromosome 1, 11082347: 11082347
4 TARDBP NM_007375.3(TARDBP): c.869G> C (p.Gly290Ala) single nucleotide variant Pathogenic rs121908395 GRCh37 Chromosome 1, 11082335: 11082335
5 TARDBP NM_007375.3(TARDBP): c.892G> A (p.Gly298Ser) single nucleotide variant Pathogenic rs4884357 GRCh37 Chromosome 1, 11082358: 11082358
6 TARDBP NM_007375.3(TARDBP): c.1042G> T (p.Gly348Cys) single nucleotide variant Pathogenic rs80356733 GRCh37 Chromosome 1, 11082508: 11082508
7 TARDBP NM_007375.3(TARDBP): c.1028A> G (p.Gln343Arg) single nucleotide variant Pathogenic rs80356731 GRCh37 Chromosome 1, 11082494: 11082494
8 TARDBP NM_007375.3(TARDBP): c.943G> A (p.Ala315Thr) single nucleotide variant Pathogenic rs80356726 GRCh37 Chromosome 1, 11082409: 11082409
9 TARDBP NM_007375.3(TARDBP): c.*697G> A single nucleotide variant Pathogenic rs387906334 GRCh37 Chromosome 1, 11083408: 11083408
10 TARDBP NM_007375.3(TARDBP): c.*83T> C single nucleotide variant Pathogenic rs80356744 GRCh37 Chromosome 1, 11082794: 11082794
11 TARDBP NM_007375.3(TARDBP): c.1144G> A (p.Ala382Thr) single nucleotide variant Pathogenic/Likely pathogenic rs367543041 GRCh37 Chromosome 1, 11082610: 11082610
12 TARDBP NM_007375.3(TARDBP): c.881G> T (p.Gly294Val) single nucleotide variant Pathogenic rs80356721 GRCh37 Chromosome 1, 11082347: 11082347
13 TARDBP NM_007375.3(TARDBP): c.883G> A (p.Gly295Ser) single nucleotide variant Pathogenic rs80356723 GRCh37 Chromosome 1, 11082349: 11082349
14 TARDBP NM_007375.3(TARDBP): c.1150G> C (p.Gly384Arg) single nucleotide variant Pathogenic rs797044594 GRCh38 Chromosome 1, 11022559: 11022559
15 TARDBP NM_007375.3(TARDBP): c.1153T> G (p.Trp385Gly) single nucleotide variant Pathogenic rs797044595 GRCh38 Chromosome 1, 11022562: 11022562

Expression for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 10, with or Without Ftd.

Pathways for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

GO Terms for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

Sources for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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